Educate And Ask: Key To Living With Sickle Cell Disease

Now to our weekly parenting conversation. Generally at this time, we check in with a group of parents, but today we want to tell you more about a health issue that might affect you or somebody you care about. It's sickle cell disease. It is the most common inherited blood disorder in the U.S., about 100,000 people in the U.S. are known to have it, according to the Centers for Disease Control. Most people who have it are people who trace their heritage to Africa, the Caribbean or the Middle East. Now, this Thursday is World Sickle Cell Awareness Day, so we thought this would be a good time to talk about how the disease is affecting children and parents. And with us now is Dr. Leslie Walker. She's a pediatrician at Seattle Children's Hospital and she joins us from time to time to talk about health issues involving children and families. Thanks so much for joining us once again.

LESLIE WALKER: Thank you. Glad to be here.

MARTIN: Can you briefly explain what sickle cell disease is?

WALKER: Sure. Sickle cell disease is actually a genetic red blood cell chronic condition that has to be passed on by both parents contributing a gene to their new child. And if you only get one of those genes, it's considered the trait and not the disease. If you get both of the genes, one from each parent, you then have what's called sickle cell disease. And what that means is that instead of the red blood cells being round and soft and easy to go through the vessels, the red blood cells are more like a crescent moon or sickle shaped - or crescent moon if you wanted to know how they look - and because of that, they're sticky and they don't flow through the vessels well. So what happens sometimes is that they clog the vessels. And that can cause extreme pain, it can cut off blood flow, sometimes it can be life threatening if it clogs in a particular area. So people with sickle cell disease have to constantly be, you know, on alert for that.

MARTIN: So why is it that it's more common? As I understand it from the CDC, from the Centers for Disease Control, it's more common among people with ancestry from Africa, South or Central America, the Caribbean, India, Saudi Arabia, Mediterranean countries - it's actually a lot of places. But I think...

WALKER: Yes (laughing).

MARTIN: That's actually a lot of places. And this country, I think, it's most commonly associated with people of African descent or African-Americans. Why is that, do we know?

WALKER: Well, one of the theories is that in places where there's malaria, you see more sickle cell disease. And the sickled cell is protective against malaria. So it's thought that, you know, maybe that's how it evolved in areas where there was high malaria. You had a - you know, natural protector. You know, definitely, you know, if you had sickle cell's trait and it wasn't overwhelming all your cells, that might be a good thing. But, you know, looking at just how we evolve, it could be that it was a protector for malaria.

MARTIN: How does it affect one's life?

WALKER: It affect's it in many ways because you don't know - first of all, as a little child, you can have trouble. Before we knew that - we test every child in this country who's born to make sure they don't have sickle cell. Before that, you would almost wait until they would have an event or, you know, sometimes their hands were puffy and their feet were puffy and they were in pain and it would take a little while to diagnose. We know now at birth, pretty close to birth, when people have it. And the thing is, is if you get a little dehydrated, if you just are not doing anything in particular, your cells could sickle. And when that happens, it's excruciating pain. And the thing to do at that time is get, you know, an IV, get a lot of fluids in, get some pain medication, get some oxygen to help pass through this period. But that could be very disruptive. Some people have it every once in a while, some people have events, you know, multiple times in a month and it really can disrupt your entire life.

MARTIN: Can you play sports?

WALKER: You know, again, if you get dehydrated, you might have more sickle events. So sometimes doing those kind of things are difficult.

MARTIN: So if you are an observant Muslim and you observe Ramadan, for example, then you would probably just have to take fluids. You couldn't, there are just things you're going to have to do to do differently. Let's say you play football in the summer, right? Pre-training is in the summer, can you play as long as you stay hydrated?

WALKER: I think that would be very difficult, you know, if you have the disease. People with trait can play and there's no real problem there. But definitely with the disease I haven't seen many kids playing football. It would be difficult.

MARTIN: How do most parents react when they find out that their children have the disorder? Is it hard for parents?

WALKER: I think it's very hard because it's not like every single child will have the disease. You know, it's considered like I was describing it, a recessive gene. So it's possible you could pass on the trait and your child doesn't have the disease. And so it's not like you're prepared necessarily that you're going to have a child with sickle cell, but when you find that out you realize that, you know, this is going to mean a lifetime of treatment and care. It's very difficult on parents. And sometimes I've had parents where they've had two or three kids with sickle cell disease.

MARTIN: What is the treatment? Is there anything you can do to control this so that it minimizes its impact on your life?

WALKER: Keeping hydrated. And watching, you know, getting hot. There are many things people have tried, like bone marrow transplants, which is - people are still experimentally looking at that. In the right person, it could be helpful. There are a lot of people now looking at gene therapy to see if that's a way to decrease the effects, or even change the disease itself if you find out early enough.

MARTIN: Is there any cure?

WALKER: No. There is not a cure. I think if gene therapy was something that was found to be useful, that'll probably be where a cure can come from. But it can be managed. I've known many people who, you know, are able to raise children and live full lives as long as they keep hydrated, they keep up with their doctor, they, you know, learn the newest treatments that are on the horizon and, you know, really keep up with the sickle cell societies. They can do very well.

MARTIN: Finally, is there something you would want people to know about this that perhaps we don't know?

WALKER: Well, one of the things, especially with adolescents in transitioning from child to adult care, there still is a problem with bias. And there's still a problem going from pediatric care to adult care where people have more trouble. They end up in the emergency room more, they end up with more problems in that transition. And one of the big things is people, a lot of times, are seen as drug seeking when they need pain medication and they come to the emergency room. So sometimes they're not treated adequately. And for years, people have been trying to make protocols so that you just have to follow a protocol and it's not left up to your personal bias. And I found that interesting because, you know, African-Americans use less narcotics and opiates, opioids, than other - than the general population. So it's really a bias to think that the African-Americans, you know, are coming in and asking for drugs, when that's not even a drug they use that frequently recreationally.

MARTIN: Final thought about how we can best support these families? I mean, if you find out, if your - say a friend has sickle cell. If your friend's child has sickle cell, if you're a teacher, you know, children who have this condition - is there something that we should know that perhaps we don't know?

WALKER: I think not to isolate. And if you don't know, ask about it because, you know, that might be helpful for the child and the family. And to help parents so that they can meet other people. It's not really that uncommon of a disease and, you know, when people are isolated with it, I think it's much harder. The are a number of, you know, groups, parent groups in different parts of the country that get together and really talk about some of the issues and try to be an advocate to help get the, you know, research going and get, you know, communities to not have a stigma or bias. And I think really helping them not to isolate and to find their support systems would be helpful.

MARTIN: Dr. Leslie Walker is a pediatrician at Seattle Children's Hospital. She was kind enough to join us from member station KUOW in Seattle. Dr. Walker, thanks so much for joining us once again.

WALKER: Thank you.

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MARTIN: And that's our program for today. I'm Michel Martin and you've been listening to TELL ME MORE from NPR News. Let's talk more tomorrow. Transcript provided by NPR, Copyright NPR.